A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13378



Internal ID15842770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17600542..17669523hg38UCSC Ensembl
Outerchr5:17599243..17670890hg38UCSC Ensembl
Innerchr5:17600651..17669632hg19UCSC Ensembl
Outerchr5:17599352..17670999hg19UCSC Ensembl
Innerchr5:17643754..17702380hg18UCSC Ensembl
Outerchr5:17642455..17703747hg18UCSC Ensembl
Innerchr5:17643754..17702380hg17UCSC Ensembl
Outerchr5:17642455..17703747hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3871648
hg1971648
hg1861293
hg1761293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10674
Supporting Variants
SamplesNA19144
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv13378
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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